Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Okumiya
T
T
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Japan.
Kawamura
O
O
Itoh
K
K
Kase
R
R
Ishii
S
S
Kamei
S
S
Sakuraba
H
H
D000328:Adult; D019943:Amino Acid Substitution; D000818:Animals; D019556:COS Cells; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D015971:Gene Expression Regulation, Enzymologic; D006579:Heterozygote; D006801:Humans; D008297:Male; D008715:Methionine; D020125:Mutation, Missense; D017354:Point Mutation; D014633:Valine; D000519:alpha-Galactosidase / Q000235:genetics* / Q000378:metabolism
D004247:DNA; D008715:Methionine; D000519:alpha-Galactosidase; D014633:Valine